KEGG   VARIANT: 6117v1
Entry
6117v1                      Variant                                
Name
RPA1 mutation
Type
Loss of function
Gene
RPA1  replication protein A1 [KO:K07466]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 179835
Network
nt06502  Nucleotide excision repair
nt06506  Double-strand break repair
nt06508  Interstrand crosslink repair
nt06509  DNA replication
Disease
H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
Reference
  Authors
Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Kunstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Geli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintome C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW
  Title
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
  Journal
Blood 139:1039-1051 (2022)
DOI:10.1182/blood.2021011980
Reference
  Authors
He H, Wang J, Liu T
  Title
UV-Induced RPA1 Acetylation Promotes Nucleotide Excision Repair.
  Journal
Cell Rep 20:2010-2025 (2017)
DOI:10.1016/j.celrep.2017.08.016
Reference
  Authors
Fourtziala E, Givalos N, Alexakis N, Griniatsos J, Alevizopoulos N, Kavantzas N, C Lazaris A, Korkolopoulou P, Gakiopoulou H
  Title
Replication Protein A (RPA1, RPA2 and RPA3) expression in gastric cancer: correlation with clinicopathologic parameters and patients' survival.
  Journal
J BUON 25:1482-1489 (2020)
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